Electrophysiologic evaluation of Emery-Dreifuss muscular dystrophy. A single fiber and quantitative EMG study

A 16-year-old boy, the only affected member of the family, noticed early onset contracture of the elbows, and developed slowly progressive humeroperoneal weakness and atrophy, and bilateral equinus. The severe restriction of the forward flexion of the neck and thoracolumbar spine, resembled a rigid spine syndrome. An electrocardiogram showed atrioventricular conduction abnormalities. Muscle biopsy was consistent with mild myopathy. The overall conventional findings of a detailed electromyographic study in the limbs and erector trunci muscles, as well as the results of conduction velocity, automatic analysis of the voluntary pattern and single fiber electromyography studies were consistent with myopathy, although some atypical findings were found. The controversy about neurogenic and myopathic features in Emery-Dreifuss disease is discussed. The unspecific value of the flexion limitation of the spine, and the uncertain nosological position of the rigid spine syndrome are also commented.     

Usefulness of 2-dimensional echocardiography in detecting intraventricular thrombi in patients with acute myocardial infarction

The purpose of this study is to determine the importance of two-dimensional echocardiography performed soon after admission to the coronary care unit to provide useful information concerning wall-motion abnormalities, and to detect and characterize left ventricular thrombi. A major goal is to identify a subgroup of patients with acute myocardial infarction who are at risk for systemic embolization; in this subgroup the benefits of anticoagulation treatment would theoretically outweigh the associated risks. We studied 7 consecutive male patients, age range from 32 to 60 years, with acute myocardial infarction. Five patients had antero-septal infarction, 1 anterolateral and another had anterior wall infarction. We performed two-dimensional echocardiography within the first week after admission. All patients had severe apical-wall-motion abnormalities (akinesis or dyskinesis) and left ventricular thrombi. All patients received anticoagulation therapy. Two-dimensional echocardiography, performed one month after the first study, showed that the thrombi had decreased in size in 6 patients and could not be visualized in 1 patient. The noninvasive nature of echocardiography allows serial evaluations of patients with known left ventricular thrombi and permits assessment of the effect of therapy.     

Portal thrombosis: Percutaneous transhepatic treatment with urokinase — A case report

We present a case report of a patient suffering from portal and superior mesenteric vein thrombosis secondary to splenectomy. No surgical procedure could be performed due to the extension of thrombus.Local fibrinolysis treatment with urokinase through a percutaneous transhepatic approach was decided upon, and this procedure had a successful patient outcome.     

Prevalence of Artemisia species pollinosis in western Poland: impact of climate change on aerobiological trends, 1995-2004.

BACKGROUND: Artemisia species pollen represents a major cause of allergy in Central Europe. Variations in the pollen season, the influence of climate variables and the prevalence of pollinosis to it were analyzed in Poznan, in western Poland between 1995 and 2004. METHODS: A Hirst volumetric spore trap was used for atmospheric sampling. Pollination date trend analysis and Spearman correlation tests were performed. Skin prick tests (SPT) and allergen specific immunoglobulin (lg)E antibody measurements were performed in 676 and 524 patients, respectively. RESULTS: The Artemisia species pollen season grew longer due to a clear advance in the starting day and only a slightly earlier end point; the peak day also came slightly earlier. Rainfall in the first fortnight of July highly influenced pollen season severity. Temperature was directly correlated with daily Artemisia species pollen levels; relative humidity was inversely correlated. Twelve percent of patients had a positive SPT reaction to Artemisia species. Their symptoms were rhinitis and conjunctivitis (15%), atopic dermatitis (15%), chronic urticaria (14.3%), bronchial asthma (2.4%), and facial and disseminated dermatitis (1.3%). Elevated specific IgE concentrations were detected in the sera of 10.1% of patients. CONCLUSIONS: Artemisia species pollen is an important cause of pollinosis in western Poland. Pollen season intensity is highly influenced by rainfall in the previous weeks. Trends towards earlier season starts and longer duration, possibly caused by climate change, may have an impact on the allergic population.     

Selective hypersensitivity to boiled razor shell.

Many types of seafood require cooking before ingestion and it has been demonstrated that this cooking process may affect the antigenicity and allergenicity of the food. We describe a case of anaphylaxis caused by selective sensitization to razor shell, a mollusc. In vivo and in vitro studies confirmed sensitization to boiled razor shell. Analysis of the nature of the allergen yielded results that were consistent with the findings of other authors and suggested that allergens involved in seafood allergy are commonly high molecular weight proteins that, in most cases, are heat stable.     

Biologic effects of parathyroid hormone metabolites: implications for renal bone disease.

PTH fragments consisting of the C-terminal portion of the molecule may have biologic effects and may modify the actions of PTH. Evidence for the presence of a C-terminal PTH receptor further supports a biologic role for such fragments. Because C-PTH fragments accumulate in patients with renal insufficiency, it is possible that they may contribute to renal bone disease. The precise role of circulating C-PTH fragments in the pathogenesis, diagnosis, and management of renal osteodystrophy, however, remains to be determined. Future studies of the biologic effects and regulation of these fragments may lead to better understanding of skeletal biology and may also improve our approach to the diagnosis and treatment of renal bone disease.